Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Unc80'

664078

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C230061B10Rik, C030018G13Rik

MMRRC Submission

068596-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66507526-66738307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66651290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1545 (H1545L)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061620] [ENSMUST00000212557]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061620
AA Change: H1545L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: H1545L

Domain	Start	End	E-Value	Type
Pfam:UNC80	16	236	2.2e-94	PFAM
low complexity region	372	385	N/A	INTRINSIC
low complexity region	493	502	N/A	INTRINSIC
low complexity region	693	711	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	739	769	N/A	INTRINSIC
low complexity region	1038	1055	N/A	INTRINSIC
low complexity region	1067	1084	N/A	INTRINSIC
low complexity region	1309	1328	N/A	INTRINSIC
low complexity region	1477	1489	N/A	INTRINSIC
low complexity region	1676	1681	N/A	INTRINSIC
low complexity region	1842	1848	N/A	INTRINSIC
low complexity region	1854	1868	N/A	INTRINSIC
low complexity region	2461	2480	N/A	INTRINSIC
low complexity region	2726	2740	N/A	INTRINSIC
low complexity region	3121	3144	N/A	INTRINSIC
low complexity region	3245	3254	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000212557
AA Change: H1477L

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,255,520 (GRCm39)	D86E	probably benign	Het
Akap3	A	G	6: 126,843,130 (GRCm39)	D583G	possibly damaging	Het
Alms1	T	A	6: 85,598,556 (GRCm39)	D1127E	probably benign	Het
Anks4b	T	A	7: 119,773,307 (GRCm39)		probably null	Het
Ano8	A	T	8: 71,935,724 (GRCm39)	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,536,850 (GRCm39)	Q7K	probably benign	Het
Brd10	T	C	19: 29,693,890 (GRCm39)	I1868V	probably benign	Het
Cand2	T	C	6: 115,769,941 (GRCm39)	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083 (GRCm39)	D44G	probably benign	Het
Cdk1	T	C	10: 69,176,435 (GRCm39)	N224S	probably benign	Het
Cep162	T	C	9: 87,114,064 (GRCm39)	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069 (GRCm39)	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,886,957 (GRCm39)	K143*	probably null	Het
Cyth1	T	A	11: 118,074,768 (GRCm39)	M178L	probably benign	Het
Dcaf11	C	T	14: 55,798,023 (GRCm39)		probably benign	Het
Dlec1	T	G	9: 118,967,225 (GRCm39)	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,302,133 (GRCm39)	S141T	probably benign	Het
Firrm	A	G	1: 163,786,895 (GRCm39)	S725P	probably damaging	Het
Flg2	T	A	3: 93,108,120 (GRCm39)	D49E	probably damaging	Het
Fyb2	T	A	4: 104,861,086 (GRCm39)	D647E	unknown	Het
Gstp1	T	C	19: 4,086,698 (GRCm39)	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,468,031 (GRCm39)	E202G	probably benign	Het
Hephl1	A	G	9: 14,985,563 (GRCm39)	F698L	probably benign	Het
Hephl1	G	T	9: 15,023,280 (GRCm39)	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,509,371 (GRCm39)	E3659V	probably benign	Het
Il27ra	A	T	8: 84,765,988 (GRCm39)	D229E	probably damaging	Het
Itih2	T	A	2: 10,103,369 (GRCm39)	D706V	probably damaging	Het
Itpr2	A	T	6: 146,133,926 (GRCm39)	C1893S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,420 (GRCm39)	D111G	probably damaging	Het
Ldb3	T	A	14: 34,299,256 (GRCm39)	S123C	probably damaging	Het
Lgals12	C	T	19: 7,581,345 (GRCm39)	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996 (GRCm39)	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,439,238 (GRCm39)	F232S	probably damaging	Het
Ncapd2	A	T	6: 125,148,817 (GRCm39)	C990S	possibly damaging	Het
Nckap5	A	T	1: 125,954,279 (GRCm39)	C758S	possibly damaging	Het
Nwd1	A	T	8: 73,394,192 (GRCm39)	D485V	probably damaging	Het
Or13a21	T	G	7: 139,999,417 (GRCm39)	S90R	probably benign	Het
Or6c2	T	C	10: 129,362,332 (GRCm39)	F79L	possibly damaging	Het
Or8g50	T	A	9: 39,648,786 (GRCm39)	I225N	probably damaging	Het
Pcgf3	G	A	5: 108,634,108 (GRCm39)	R122Q	probably benign	Het
Pgm5	T	A	19: 24,812,212 (GRCm39)	I107F	probably damaging	Het
Pid1	G	T	1: 84,016,066 (GRCm39)	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,703,807 (GRCm39)	T710A	probably benign	Het
Plpbp	T	A	8: 27,535,165 (GRCm39)		probably null	Het
Ppfibp2	T	G	7: 107,343,432 (GRCm39)	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg17	T	A	7: 18,550,836 (GRCm39)	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,961,133 (GRCm39)	S239P	probably damaging	Het
Ralbp1	A	C	17: 66,166,036 (GRCm39)	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,300,969 (GRCm39)	L613*	probably null	Het
Rgs11	T	C	17: 26,422,346 (GRCm39)	V49A	probably damaging	Het
Ryr1	C	T	7: 28,791,693 (GRCm39)	V1404I	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Slc22a13	T	A	9: 119,038,126 (GRCm39)	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,316,526 (GRCm39)	I591L	probably benign	Het
Tacr2	T	A	10: 62,088,733 (GRCm39)	V46E	possibly damaging	Het
Tet2	C	T	3: 133,194,039 (GRCm39)	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,851 (GRCm39)	R724*	probably null	Het
Tmco3	A	T	8: 13,341,782 (GRCm39)	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tpm1	A	T	9: 66,935,371 (GRCm39)	L248Q	probably benign	Het
Tprn	T	A	2: 25,154,027 (GRCm39)	I443N	probably benign	Het
Vmn2r97	T	A	17: 19,168,104 (GRCm39)	M786K	probably damaging	Het
Wipi1	C	T	11: 109,494,645 (GRCm39)	V63M	probably damaging	Het
Zcchc4	G	A	5: 52,976,724 (GRCm39)	R506H	unknown	Het
Zfand6	A	T	7: 84,281,899 (GRCm39)	V110E	probably benign	Het
Zfp866	A	T	8: 70,219,381 (GRCm39)	Y80N	possibly damaging	Het

Other mutations in Unc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Unc80	APN	1	66,693,554 (GRCm39)	missense	possibly damaging	0.53
IGL00340:Unc80	APN	1	66,645,618 (GRCm39)	missense	possibly damaging	0.73
IGL00783:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00784:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00935:Unc80	APN	1	66,666,425 (GRCm39)	missense	possibly damaging	0.53
IGL01094:Unc80	APN	1	66,734,592 (GRCm39)	missense	possibly damaging	0.90
IGL01466:Unc80	APN	1	66,661,645 (GRCm39)	missense	probably benign	0.33
IGL01577:Unc80	APN	1	66,569,127 (GRCm39)	splice site	probably null
IGL01626:Unc80	APN	1	66,590,213 (GRCm39)	critical splice donor site	probably null
IGL01640:Unc80	APN	1	66,718,744 (GRCm39)	missense	probably benign	0.33
IGL01775:Unc80	APN	1	66,640,215 (GRCm39)	missense	possibly damaging	0.94
IGL01960:Unc80	APN	1	66,647,659 (GRCm39)	splice site	probably benign
IGL01991:Unc80	APN	1	66,508,668 (GRCm39)	nonsense	probably null
IGL02022:Unc80	APN	1	66,665,675 (GRCm39)	missense	possibly damaging	0.53
IGL02073:Unc80	APN	1	66,651,386 (GRCm39)	missense	possibly damaging	0.85
IGL02077:Unc80	APN	1	66,564,875 (GRCm39)	missense	possibly damaging	0.77
IGL02197:Unc80	APN	1	66,569,224 (GRCm39)	missense	probably benign	0.39
IGL02198:Unc80	APN	1	66,569,145 (GRCm39)	missense	possibly damaging	0.88
IGL02228:Unc80	APN	1	66,647,587 (GRCm39)	missense	possibly damaging	0.72
IGL02327:Unc80	APN	1	66,680,832 (GRCm39)	missense	probably benign	0.33
IGL02447:Unc80	APN	1	66,542,703 (GRCm39)	missense	possibly damaging	0.86
IGL02489:Unc80	APN	1	66,564,860 (GRCm39)	missense	probably benign	0.07
IGL02546:Unc80	APN	1	66,594,112 (GRCm39)	missense	possibly damaging	0.83
IGL02629:Unc80	APN	1	66,522,476 (GRCm39)	missense	possibly damaging	0.46
IGL02631:Unc80	APN	1	66,569,222 (GRCm39)	missense	probably damaging	0.98
IGL02839:Unc80	APN	1	66,710,834 (GRCm39)	missense	possibly damaging	0.53
IGL02960:Unc80	APN	1	66,717,217 (GRCm39)	splice site	probably benign
IGL02974:Unc80	APN	1	66,564,817 (GRCm39)	missense	possibly damaging	0.95
IGL03060:Unc80	APN	1	66,676,169 (GRCm39)	missense	possibly damaging	0.96
IGL03062:Unc80	APN	1	66,548,648 (GRCm39)	missense	probably damaging	0.96
IGL03074:Unc80	APN	1	66,710,877 (GRCm39)	splice site	probably benign
IGL03086:Unc80	APN	1	66,548,633 (GRCm39)	missense	probably damaging	0.99
IGL03105:Unc80	APN	1	66,511,258 (GRCm39)	missense	probably damaging	0.96
IGL03107:Unc80	APN	1	66,670,613 (GRCm39)	missense	probably damaging	0.98
IGL03158:Unc80	APN	1	66,680,833 (GRCm39)	missense	probably benign	0.33
IGL03220:Unc80	APN	1	66,544,097 (GRCm39)	missense	probably damaging	0.99
IGL03271:Unc80	APN	1	66,734,762 (GRCm39)	unclassified	probably benign
IGL03332:Unc80	APN	1	66,542,790 (GRCm39)	missense	probably damaging	1.00
IGL03347:Unc80	APN	1	66,734,625 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0026:Unc80	UTSW	1	66,560,743 (GRCm39)	missense	probably benign	0.27
R0055:Unc80	UTSW	1	66,545,782 (GRCm39)	splice site	probably benign
R0149:Unc80	UTSW	1	66,560,760 (GRCm39)	missense	possibly damaging	0.82
R0325:Unc80	UTSW	1	66,550,040 (GRCm39)	missense	probably damaging	1.00
R0329:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0330:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0355:Unc80	UTSW	1	66,589,015 (GRCm39)	missense	possibly damaging	0.77
R0412:Unc80	UTSW	1	66,590,096 (GRCm39)	splice site	probably benign
R0422:Unc80	UTSW	1	66,522,497 (GRCm39)	missense	probably damaging	1.00
R0477:Unc80	UTSW	1	66,609,160 (GRCm39)	missense	probably damaging	0.99
R0507:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0513:Unc80	UTSW	1	66,661,633 (GRCm39)	missense	possibly damaging	0.73
R0553:Unc80	UTSW	1	66,545,828 (GRCm39)	missense	probably damaging	0.97
R0626:Unc80	UTSW	1	66,647,601 (GRCm39)	missense	probably benign	0.01
R0655:Unc80	UTSW	1	66,542,940 (GRCm39)	missense	probably damaging	0.98
R0742:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0755:Unc80	UTSW	1	66,544,082 (GRCm39)	missense	probably damaging	1.00
R0782:Unc80	UTSW	1	66,661,740 (GRCm39)	missense	possibly damaging	0.53
R0837:Unc80	UTSW	1	66,688,103 (GRCm39)	missense	possibly damaging	0.73
R0841:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R0893:Unc80	UTSW	1	66,560,645 (GRCm39)	missense	probably damaging	0.97
R0900:Unc80	UTSW	1	66,710,757 (GRCm39)	missense	probably benign	0.33
R0924:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0930:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0989:Unc80	UTSW	1	66,685,599 (GRCm39)	missense	possibly damaging	0.53
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1224:Unc80	UTSW	1	66,511,139 (GRCm39)	missense	probably damaging	1.00
R1240:Unc80	UTSW	1	66,675,061 (GRCm39)	missense	possibly damaging	0.85
R1245:Unc80	UTSW	1	66,594,254 (GRCm39)	missense	possibly damaging	0.94
R1467:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1473:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1500:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1556:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1562:Unc80	UTSW	1	66,677,116 (GRCm39)	missense	probably damaging	1.00
R1655:Unc80	UTSW	1	66,711,915 (GRCm39)	missense	possibly damaging	0.86
R1674:Unc80	UTSW	1	66,548,467 (GRCm39)	missense	probably damaging	1.00
R1680:Unc80	UTSW	1	66,542,828 (GRCm39)	nonsense	probably null
R1739:Unc80	UTSW	1	66,567,051 (GRCm39)	missense	probably damaging	0.97
R1756:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1783:Unc80	UTSW	1	66,722,432 (GRCm39)	missense	probably benign	0.01
R1834:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1854:Unc80	UTSW	1	66,670,573 (GRCm39)	missense	possibly damaging	0.93
R1871:Unc80	UTSW	1	66,549,876 (GRCm39)	missense	possibly damaging	0.77
R1878:Unc80	UTSW	1	66,548,561 (GRCm39)	missense	probably damaging	0.96
R1883:Unc80	UTSW	1	66,564,929 (GRCm39)	missense	possibly damaging	0.89
R1912:Unc80	UTSW	1	66,549,784 (GRCm39)	missense	probably damaging	1.00
R1990:Unc80	UTSW	1	66,731,708 (GRCm39)	missense	probably damaging	0.97
R2007:Unc80	UTSW	1	66,542,935 (GRCm39)	missense	probably damaging	1.00
R2035:Unc80	UTSW	1	66,645,752 (GRCm39)	missense	probably damaging	0.98
R2056:Unc80	UTSW	1	66,679,711 (GRCm39)	missense	possibly damaging	0.72
R2060:Unc80	UTSW	1	66,679,754 (GRCm39)	missense	possibly damaging	0.53
R2074:Unc80	UTSW	1	66,718,903 (GRCm39)	critical splice donor site	probably null
R2088:Unc80	UTSW	1	66,629,386 (GRCm39)	missense	possibly damaging	0.77
R2089:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2091:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2139:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2169:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2175:Unc80	UTSW	1	66,716,514 (GRCm39)	missense	probably damaging	1.00
R2248:Unc80	UTSW	1	66,662,365 (GRCm39)	splice site	probably benign
R2255:Unc80	UTSW	1	66,657,417 (GRCm39)	missense	possibly damaging	0.53
R2308:Unc80	UTSW	1	66,688,156 (GRCm39)	missense	possibly damaging	0.53
R2484:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2507:Unc80	UTSW	1	66,651,266 (GRCm39)	missense	possibly damaging	0.53
R2512:Unc80	UTSW	1	66,710,767 (GRCm39)	missense	possibly damaging	0.70
R2878:Unc80	UTSW	1	66,710,735 (GRCm39)	critical splice acceptor site	probably benign
R3040:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3104:Unc80	UTSW	1	66,662,450 (GRCm39)	missense	probably benign	0.33
R3402:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3403:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3413:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3426:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3427:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3428:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3904:Unc80	UTSW	1	66,678,455 (GRCm39)	nonsense	probably null
R3916:Unc80	UTSW	1	66,716,654 (GRCm39)	missense	probably benign	0.11
R3950:Unc80	UTSW	1	66,661,729 (GRCm39)	missense	possibly damaging	0.53
R4642:Unc80	UTSW	1	66,710,873 (GRCm39)	splice site	probably null
R4646:Unc80	UTSW	1	66,708,394 (GRCm39)	missense	probably benign	0.03
R4655:Unc80	UTSW	1	66,710,821 (GRCm39)	missense	probably benign	0.18
R4662:Unc80	UTSW	1	66,685,595 (GRCm39)	missense	probably benign	0.01
R4720:Unc80	UTSW	1	66,549,951 (GRCm39)	missense	possibly damaging	0.92
R4736:Unc80	UTSW	1	66,688,831 (GRCm39)	critical splice acceptor site	probably null
R4795:Unc80	UTSW	1	66,567,100 (GRCm39)	missense	probably damaging	0.97
R4888:Unc80	UTSW	1	66,683,606 (GRCm39)	missense	probably damaging	0.98
R4917:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4918:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4983:Unc80	UTSW	1	66,713,891 (GRCm39)	splice site	probably null
R5051:Unc80	UTSW	1	66,548,636 (GRCm39)	missense	probably damaging	0.96
R5111:Unc80	UTSW	1	66,567,154 (GRCm39)	missense	possibly damaging	0.66
R5122:Unc80	UTSW	1	66,718,749 (GRCm39)	missense	possibly damaging	0.53
R5260:Unc80	UTSW	1	66,685,746 (GRCm39)	missense	possibly damaging	0.53
R5351:Unc80	UTSW	1	66,645,672 (GRCm39)	missense	possibly damaging	0.73
R5387:Unc80	UTSW	1	66,569,180 (GRCm39)	missense	possibly damaging	0.77
R5437:Unc80	UTSW	1	66,693,737 (GRCm39)	missense	possibly damaging	0.96
R5525:Unc80	UTSW	1	66,645,773 (GRCm39)	missense	possibly damaging	0.72
R5621:Unc80	UTSW	1	66,677,202 (GRCm39)	missense	possibly damaging	0.53
R5690:Unc80	UTSW	1	66,679,731 (GRCm39)	missense	probably benign	0.08
R5762:Unc80	UTSW	1	66,732,955 (GRCm39)	missense	possibly damaging	0.82
R5956:Unc80	UTSW	1	66,567,123 (GRCm39)	missense	probably damaging	0.97
R6005:Unc80	UTSW	1	66,666,416 (GRCm39)	missense	possibly damaging	0.53
R6025:Unc80	UTSW	1	66,734,727 (GRCm39)	missense	possibly damaging	0.90
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6117:Unc80	UTSW	1	66,714,226 (GRCm39)	missense	possibly damaging	0.72
R6156:Unc80	UTSW	1	66,651,409 (GRCm39)	missense	probably benign	0.01
R6157:Unc80	UTSW	1	66,693,188 (GRCm39)	nonsense	probably null
R6189:Unc80	UTSW	1	66,716,630 (GRCm39)	missense	probably benign	0.33
R6291:Unc80	UTSW	1	66,560,756 (GRCm39)	missense	possibly damaging	0.82
R6367:Unc80	UTSW	1	66,711,925 (GRCm39)	missense	probably benign	0.33
R6598:Unc80	UTSW	1	66,507,699 (GRCm39)	critical splice donor site	probably null
R6724:Unc80	UTSW	1	66,722,350 (GRCm39)	missense	possibly damaging	0.90
R6763:Unc80	UTSW	1	66,560,636 (GRCm39)	missense	probably benign	0.00
R6773:Unc80	UTSW	1	66,690,702 (GRCm39)	missense	probably benign	0.33
R6883:Unc80	UTSW	1	66,685,563 (GRCm39)	missense	probably benign	0.33
R6951:Unc80	UTSW	1	66,687,670 (GRCm39)	missense	possibly damaging	0.53
R6965:Unc80	UTSW	1	66,685,725 (GRCm39)	missense	probably benign	0.33
R6993:Unc80	UTSW	1	66,588,952 (GRCm39)	missense	possibly damaging	0.60
R7041:Unc80	UTSW	1	66,542,752 (GRCm39)	missense	probably benign	0.00
R7050:Unc80	UTSW	1	66,590,067 (GRCm39)	splice site	probably null
R7067:Unc80	UTSW	1	66,685,731 (GRCm39)	missense	possibly damaging	0.86
R7080:Unc80	UTSW	1	66,685,680 (GRCm39)	missense	possibly damaging	0.53
R7193:Unc80	UTSW	1	66,588,943 (GRCm39)	missense	possibly damaging	0.60
R7197:Unc80	UTSW	1	66,560,725 (GRCm39)	nonsense	probably null
R7278:Unc80	UTSW	1	66,591,368 (GRCm39)	missense	possibly damaging	0.82
R7290:Unc80	UTSW	1	66,640,356 (GRCm39)	missense	probably damaging	0.97
R7391:Unc80	UTSW	1	66,734,687 (GRCm39)	missense	probably benign	0.18
R7401:Unc80	UTSW	1	66,685,574 (GRCm39)	missense	possibly damaging	0.96
R7470:Unc80	UTSW	1	66,661,621 (GRCm39)	missense	probably benign	0.02
R7573:Unc80	UTSW	1	66,560,696 (GRCm39)	missense	probably damaging	1.00
R7637:Unc80	UTSW	1	66,711,843 (GRCm39)	missense	possibly damaging	0.86
R7678:Unc80	UTSW	1	66,688,881 (GRCm39)	missense	probably benign	0.33
R7697:Unc80	UTSW	1	66,677,104 (GRCm39)	missense	possibly damaging	0.93
R7746:Unc80	UTSW	1	66,716,544 (GRCm39)	missense	probably benign	0.33
R7768:Unc80	UTSW	1	66,549,754 (GRCm39)	missense	possibly damaging	0.56
R7796:Unc80	UTSW	1	66,542,873 (GRCm39)	missense	probably benign
R7855:Unc80	UTSW	1	66,522,508 (GRCm39)	missense	possibly damaging	0.78
R7878:Unc80	UTSW	1	66,640,300 (GRCm39)	missense	possibly damaging	0.88
R7879:Unc80	UTSW	1	66,549,866 (GRCm39)	missense	probably benign	0.00
R8024:Unc80	UTSW	1	66,645,803 (GRCm39)	missense	possibly damaging	0.86
R8026:Unc80	UTSW	1	66,522,463 (GRCm39)	missense	possibly damaging	0.92
R8115:Unc80	UTSW	1	66,688,072 (GRCm39)	missense	probably benign	0.00
R8135:Unc80	UTSW	1	66,548,446 (GRCm39)	missense	possibly damaging	0.49
R8170:Unc80	UTSW	1	66,690,692 (GRCm39)	missense	probably benign	0.33
R8239:Unc80	UTSW	1	66,693,178 (GRCm39)	missense	probably benign
R8249:Unc80	UTSW	1	66,658,650 (GRCm39)	missense	probably benign	0.01
R8275:Unc80	UTSW	1	66,679,773 (GRCm39)	nonsense	probably null
R8288:Unc80	UTSW	1	66,512,509 (GRCm39)	missense	probably benign	0.07
R8341:Unc80	UTSW	1	66,688,192 (GRCm39)	missense	possibly damaging	0.73
R8356:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8433:Unc80	UTSW	1	66,677,187 (GRCm39)	nonsense	probably null
R8456:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8464:Unc80	UTSW	1	66,512,423 (GRCm39)	missense	probably damaging	1.00
R8483:Unc80	UTSW	1	66,732,869 (GRCm39)	missense	possibly damaging	0.83
R8509:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8686:Unc80	UTSW	1	66,651,427 (GRCm39)	missense	possibly damaging	0.53
R8701:Unc80	UTSW	1	66,677,191 (GRCm39)	missense	possibly damaging	0.85
R8729:Unc80	UTSW	1	66,647,649 (GRCm39)	missense	probably benign	0.01
R8771:Unc80	UTSW	1	66,685,554 (GRCm39)	missense	possibly damaging	0.85
R8866:Unc80	UTSW	1	66,629,388 (GRCm39)	missense	probably benign	0.05
R8877:Unc80	UTSW	1	66,567,144 (GRCm39)	missense	possibly damaging	0.89
R8942:Unc80	UTSW	1	66,512,468 (GRCm39)	missense	possibly damaging	0.94
R8976:Unc80	UTSW	1	66,511,169 (GRCm39)	missense	possibly damaging	0.87
R9063:Unc80	UTSW	1	66,645,816 (GRCm39)	critical splice donor site	probably null
R9095:Unc80	UTSW	1	66,545,912 (GRCm39)	missense	probably damaging	1.00
R9125:Unc80	UTSW	1	66,718,740 (GRCm39)	missense	probably benign	0.18
R9130:Unc80	UTSW	1	66,677,244 (GRCm39)	missense	possibly damaging	0.85
R9165:Unc80	UTSW	1	66,589,000 (GRCm39)	missense	probably null	0.95
R9220:Unc80	UTSW	1	66,546,534 (GRCm39)	missense	probably damaging	1.00
R9262:Unc80	UTSW	1	66,594,411 (GRCm39)	intron	probably benign
R9334:Unc80	UTSW	1	66,688,919 (GRCm39)	missense	possibly damaging	0.73
R9374:Unc80	UTSW	1	66,629,460 (GRCm39)	missense	possibly damaging	0.95
R9387:Unc80	UTSW	1	66,589,097 (GRCm39)	critical splice donor site	probably null
R9415:Unc80	UTSW	1	66,550,064 (GRCm39)	missense
R9427:Unc80	UTSW	1	66,594,158 (GRCm39)	missense	probably damaging	1.00
R9436:Unc80	UTSW	1	66,732,964 (GRCm39)	critical splice donor site	probably null
R9454:Unc80	UTSW	1	66,734,749 (GRCm39)	missense	possibly damaging	0.53
R9522:Unc80	UTSW	1	66,677,221 (GRCm39)	missense	possibly damaging	0.73
R9539:Unc80	UTSW	1	66,609,163 (GRCm39)	critical splice donor site	probably null
R9552:Unc80	UTSW	1	66,717,282 (GRCm39)	missense	possibly damaging	0.85
R9667:Unc80	UTSW	1	66,651,287 (GRCm39)	missense	possibly damaging	0.86
R9720:Unc80	UTSW	1	66,683,485 (GRCm39)	missense	possibly damaging	0.53
R9749:Unc80	UTSW	1	66,544,179 (GRCm39)	missense	probably damaging	0.99
R9789:Unc80	UTSW	1	66,651,371 (GRCm39)	missense	possibly damaging	0.53
X0019:Unc80	UTSW	1	66,687,541 (GRCm39)	missense	probably benign	0.33
X0021:Unc80	UTSW	1	66,548,425 (GRCm39)	critical splice acceptor site	probably null
X0024:Unc80	UTSW	1	66,530,205 (GRCm39)	missense	probably benign	0.21
X0062:Unc80	UTSW	1	66,662,418 (GRCm39)	missense	probably benign	0.02
X0066:Unc80	UTSW	1	66,569,916 (GRCm39)	missense	possibly damaging	0.77
Y4335:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4336:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4338:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Z1088:Unc80	UTSW	1	66,685,610 (GRCm39)	missense	possibly damaging	0.85
Z1176:Unc80	UTSW	1	66,733,568 (GRCm39)	missense	probably benign
Z1177:Unc80	UTSW	1	66,734,498 (GRCm39)	missense	probably benign	0.03
Z1177:Unc80	UTSW	1	66,685,557 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTCACACGCAATGTTTAAGTGTC -3'
(R):5'- ATTACCCGGTGACTGCTCAC -3'

Sequencing Primer
(F):5'- CAAGTGAGTGGAGACTACCTATTGTC -3'
(R):5'- GGTGACTGCTCACTCACC -3'

Posted On

2021-03-08